ORPHA:91132
Ichthyosis-hypotrichosis syndrome
Also known as: Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome · IHS · Ichthyosis-follicular atrophoderma-hypotrichosis syndrome · Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
14,099
Trials
0
Interventional, condition-specific
Researchers
147
Distinct authors in sample
Gene link
KRT1, ST14
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Ichthyosis-hypotrichosis syndrome is characterised by ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this plays a role in epidermal desquamation.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011218
- MeSH:C536273
- OMIM:602400
- UMLS:C1835851
Additional Mondo synonyms (8)
autosomal recessive congenital ichthyosis 11 · autosomal recessive congenital ichthyosis type 11 · hypotrichosis-congenital ichthyosis syndrome · ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis · ichthyosis, congenital, autosomal recessive type 11 · ichthyosis-follicular atrophoderma-hypotrichosis syndrome · ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome · ichthyosis-hypotrichosis syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — KRT1, ST14
- LiteraturePresent
14,099 matched papers (9,235 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Curly hair; Corneal opacity; Abnormal nail morphology) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (KRT1, ST14).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
20
Associated phenotypes · MONDO:0011218
- Curly hair
- Corneal opacity
- Abnormal nail morphology
- Brittle hair
- Congenital ichthyosiform erythroderma
Showing 5 of 20 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
14,099
14,099 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
14,099 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
9,235 in the last 10 years · low confidence
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
147
Distinct author names in 21 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Fischer J3 papers · 2023
Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address: judith.fischer@uniklinik-freiburg.de.
Papers in Europe PMC - 02Youssefian L3 papers · 2022
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
Papers in Europe PMC - 03Uitto J2 papers · 2022
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA. Jouni.Uitto@Jefferson.edu.
Papers in Europe PMC - 04Vahidnezhad H2 papers · 2022
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
Papers in Europe PMC - 05Zeinali S2 papers · 2022
Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Papers in Europe PMC - 06Abdollahimajd F1 paper · 2022
Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 07Afzal I1 paper · 2017
Department of Biology, Lahore Garrison University, Lahore, Pakistan.
Papers in Europe PMC - 08Almazroea A1 paper · 2023
Pediatrician, Associate Professor at College of Medicine, Taibah University, Madinah 41477, Saudi Arabia.
Papers in Europe PMC - 09Ayub M1 paper · 2023
Institute of Biochemistry, University of Balochistan, Quetta 87550, Pakistan.
Papers in Europe PMC - 10Aziz A1 paper · 2023
Department of Computer Sciences and Bioinformatics, Khushal Khan Khattak University, Karak 27200, Pakistan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Ichthyosis-hypotrichosis syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Ichthyosis-hypotrichosis syndrome" OR "Hypotrichosis-congenital ichthyosis syndrome" OR "IFAH syndrome" OR "Ichthyosis-follicular atrophoderma-hypotrichosis syndrome" OR "Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" OR "autosomal recessive congenital ichthyosis 11" OR "autosomal recessive congenital ichthyosis type 11" OR "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" OR "ichthyosis, congenital, autosomal recessive type 11") OR (MESH:"Ichthyosis with hypotrichosis, autosomal recessive") OR ("KRT1" OR "KRT1 syndrome" OR "KRT1-related" OR "ST14" OR "ST14 syndrome" OR "ST14-related")MeSH descriptor terms unioned into the query: Ichthyosis with hypotrichosis, autosomal recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ichthyosis-hypotrichosis syndrome" OR "Hypotrichosis-congenital ichthyosis syndrome" OR "IFAH syndrome" OR "Ichthyosis-follicular atrophoderma-hypotrichosis syndrome" OR "Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" OR "autosomal recessive congenital ichthyosis 11" OR "autosomal recessive congenital ichthyosis type 11" OR "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" OR "ichthyosis, congenital, autosomal recessive type 11" OR "Ichthyosis with hypotrichosis, autosomal recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IHS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (14099) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:56:59.846Z